The Genomics Research Centre investigates the genetic basis of disease. The research is focused on common chronic human disorders – for example migraine, high blood pressure and cancer- that have a significant genetic component. The identification of genes involved in these disorders is being pursued to lead to better forms of diagnosis and more appropriate treatments.
Scientists within the Genomics Research Centre have expertise in gene mapping and the characterisation of gene dysfunction. They also have the ability to translate this information to both diagnostic and therapeutic outcomes, through, for example, DNA mutation testing and vaccine development. In addition, the Centre is aware of the important ethical and psychological issues associated with genetics and consequently researchers within the Centre are actively engaged in training Genetic Counsellors and Clinical Geneticists.
The Centre has strong and developing research linkages with practising clinicians in various medical fields, as genes are now known to play a significant role in many disease states. Our aim is to identify genes involved in disease susceptibility and development, so that better forms of counselling, diagnosis and treatment may be used to prevent or cure common genetic disorders.
The focus of the Genomics Research Centre is the study of the genetic basis of disease. Our aim is to identify genes involved in disease susceptibility and development. Specific aims are:
- To identify genes involved in common, complex human disorders.
- To define the molecular basis of gene dysfunction and how this relates to disease.
- To use this information and develop better forms of diagnosis for genetic and lifestyle counselling to aid in disease adaptation and prevention.
- To develop more appropriate treatments targeted to the specific genetic causes underlying individual forms of disease.
Significance and Objectives
Complex human disorders are disorders that involve multiple genetic and environmental components. They generally occur later in terms of age of onset, than the more well-known single gene disorders, such as Cystic Fibrosis or Muscular Dystrophy, and are much more prevalent. Examples include hypertension, which occurs in 20% of Australian adults, migraine affecting about 12% of our population and various types of cancer, including breast cancer which affects 1 in 11 Australian women. Understanding the genetic basis of complex human disorders would have a significant impact on their diagnosis, treatment and prevention and thus the quality of life of sufferers of these disorders. The development of diagnostic profiling could greatly aid in tailoring the appropriate treatment to the detected gene problem and in combination with early detection and lifestyle counselling, the results of this research could have the capacity to prevent or retard the development of some complex genetic conditions. In addition, there is currently an absence of diagnostic tests for many common genetic disorders, such as typical migraine and MS. The research undertaken at GRC has the promise of providing reliable diagnostics for these and other disorders currently under study. With the development of such diagnostic tests the GRC is well poised to undertake further progress in the developing fields of genetic risk profiling, pharmacogenomics and gene therapies.
Infrastructure – The GRC has created a suite of core laboratory facilities which enhance the research capacity of scientists including: a microarray facility for gene expression scanning and gridding of genes for expression profiling; PCR equipment for gene analysis and real-time gene quantitation; a DNA sequencing and genotyping facility; facilities for DNA and tissue collections and ascertainment of phenotypic information; facilities/staff qualified to undertake clinical trials.